SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed. Structu...

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Bibliographic Details
Main Authors: Balachandran, P. (Author), Beck, C.R (Author), Danis, D. (Author), Haimel, M. (Author), Helbig, I. (Author), Jacobsen, J.O.B (Author), Lee, C. (Author), Lyon, G.J (Author), Mungall, C.J (Author), Reese, J. (Author), Robinson, P.N (Author), Smedley, D. (Author), Yilmaz, F. (Author), Zhu, Q. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2022
Subjects:
Long-read sequencing
Structural variant
Whole genome sequencing
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